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- W8084923 abstract "Missense mutations in type I collagen which lead to replacement of one Gly within the repeating (Gly-Xaa-Yaa) n sequence by a larger residue represent the largest class of dominant mutations leading to osteogenesis imperfecta (OI). It has not proved easy to dissect the sequence of events leading from a Gly missense mutation to the OI clinical phenotype nor to understand why some mutations lead to a lethal phenotype while others result in milder cases. The multilevel assembly of collagen into triple-helical molecules within the endoplasmic reticulum, followed by secretion and formation of fibrils as part of the extracellular matrix creates many potential sites for disruption. Experimental studies investigating the effect of Gly missense mutations on triple-helix structure, stability and folding are reviewed here, together with computational approaches based on the extensive OI database." @default.
- W8084923 created "2016-06-24" @default.
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- W8084923 date "2014-01-01" @default.
- W8084923 modified "2023-09-26" @default.
- W8084923 title "Structural Consequences of Glycine Missense Mutations in Osteogenesis Imperfecta" @default.
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- W8084923 doi "https://doi.org/10.1016/b978-0-12-397165-4.00011-3" @default.
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